{"id":122127,"date":"2026-01-08T18:17:21","date_gmt":"2026-01-08T09:17:21","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122127"},"modified":"2026-03-03T12:16:57","modified_gmt":"2026-03-03T03:16:57","slug":"niemann-pick-disease-type-c2-npc2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/niemann-pick-disease-type-c2-npc2\/","title":{"rendered":"\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5\u3001C2\u578b\u3001NPC2\u578b"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5C\u578b\u306f\u3001\u7d30\u80de\u5185\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304a\u3088\u3073\u30b9\u30d5\u30a3\u30f3\u30b4\u8102\u8cea\u306e\u8f38\u9001\u969c\u5bb3\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u30ea\u30bd\u30bd\u30fc\u30e0\u84c4\u7a4d\u75c7\u3067\u3059\u3002\u305d\u306e\u4e2d\u3067C2\u578b\uff08NPC2\u578b\uff09\u306f\u3001NPC2\u30bf\u30f3\u30d1\u30af\u306e\u6b20\u640d\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u7a00\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u3059\u3002NPC2\u306f\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u8154\u30bf\u30f3\u30d1\u30af\u3068\u3057\u3066\u904a\u96e2\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092NPC1\u3078\u53d7\u3051\u6e21\u3059\u5f79\u5272\u3092\u62c5\u3063\u3066\u304a\u308a\u3001\u3053\u306e\u7d4c\u8def\u304c\u969c\u5bb3\u3055\u308c\u308b\u3053\u3068\u3067\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u795e\u7d4c\u7d30\u80de\u3001\u809d\u7d30\u80de\u3001\u813e\u7d30\u80de\u306a\u3069\u306b\u8102\u8cea\u304c\u84c4\u7a4d\u3057\u3001\u9032\u884c\u6027\u306e\u795e\u7d4c\u969c\u5bb3\u304a\u3088\u3073\u809d\u813e\u816b\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

C2\u578b\u306fC1\u578b\u3088\u308a\u3082\u767a\u75c7\u304c\u65e9\u304f\u3001\u9032\u884c\u304c\u901f\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

\u30cb\u30fc\u30de\u30f3\u30fb\u30d4\u30c3\u30af\u75c5C\u578b\u5168\u4f53\u306e\u6709\u75c5\u7387\u306f\u7d0412\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3001\u305d\u306e\u3046\u3061NPC2\u578b\u306f\u5168\u4f53\u306e\u7d045\uff05\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(Orphanet)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fNPC2\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002NPC2\u907a\u4f1d\u5b50\u306f\u30d2\u30c814\u756a\u67d3\u8272\u4f53\uff0814q24\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u7d30\u80de\u5185\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8f38\u9001\u304c\u969c\u5bb3\u3055\u308c\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u4e73\u5150\u671f<\/strong><\/h3>\n\n\n\n
    \n
  • \u809d\u813e\u816b<\/li>\n\n\n\n
  • \u9ec4\u75b8<\/li>\n\n\n\n
  • \u767a\u9054\u9045\u6ede<\/li>\n<\/ul>\n\n\n\n

    \u5c0f\u5150\u671f\u4ee5\u964d<\/strong><\/h3>\n\n\n\n
      \n
    • \u5782\u76f4\u6027\u6838\u4e0a\u6027\u6ce8\u8996\u9ebb\u75fa<\/li>\n\n\n\n
    • \u5931\u8abf<\/li>\n\n\n\n
    • \u3066\u3093\u304b\u3093<\/li>\n\n\n\n
    • \u56a5\u4e0b\u969c\u5bb3<\/li>\n\n\n\n
    • \u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u8840\u6e05\u30aa\u30ad\u30b7\u30b9\u30c6\u30ed\u30fc\u30eb\u9ad8\u5024<\/li>\n\n\n\n
      2. \u30d5\u30a3\u30ea\u30d4\u30f3\u67d3\u8272\u306b\u3088\u308b\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u84c4\u7a4d<\/li>\n\n\n\n
      3. MRI\u3067\u5c0f\u8133\u840e\u7e2e<\/li>\n\n\n\n
      4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08NPC2\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u30df\u30b0\u30eb\u30b9\u30bf\u30c3\u30c8\uff08\u795e\u7d4c\u75c7\u72b6\u9032\u884c\u6291\u5236\uff09<\/li>\n\n\n\n
        • \u5bfe\u75c7\u7642\u6cd5<\/li>\n\n\n\n
        • \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n\n\n\n
        • \u6804\u990a\u30fb\u547c\u5438\u7ba1\u7406<\/li>\n<\/ul>\n\n\n\n

          \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

          Niemann-Pick Disease Type C \u2014 GeneReviews, PubMed Central.(PMC)
          Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010.(Orphanet)
          NPC2 \u2014 Malacards Rare Disease Database.(malacards.org)
          Niemann-Pick Disease Type C2 \u2014 Orphanet.(Orphanet)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122127","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122127","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122127\/revisions"}],"predecessor-version":[{"id":125248,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122127\/revisions\/125248"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122127"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}